501 hot topic(s) found with the query "Implementation"
Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial
(Posted: Apr 19, 2024 10AM)
From the abstract: " Familial hypercholesterolemia (FH) is a heritable disorder affecting 1.3 million individuals in the USA. Eighty percent of people with FH are undiagnosed, particularly minoritized populations including Black or African American people, Asian or Asian American people, and women across racial groups. Family cascade screening is an evidence-based practice that can increase diagnosis and improve health outcomes but is rarely implemented in routine practice, representing an important care gap. In pilot work, we leveraged best practices from behavioral economics and implementation science—including mixed-methods contextual inquiry with clinicians, patients, and health system constituents—to co-design two patient-facing implementation strategies to address this care gap..."
Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
J Chiang et al, NPJ Genomic Medicine, April 5, 2024
(Posted: Apr 04, 2024 9AM)
From the abstract: " Despite growing efforts targeted at improving cascade testing uptake, current literature continues to reflect poor rates of uptake, typically below 30%. This study aims to systematically review current literature on intervention strategies to improve cascade testing, assess the quality of intervention descriptions and evaluate the implementation outcomes of listed interventions. This systematic review shows that most interventions have demonstrated success in improving cascade testing uptake. Uptake of cascade testing was highest with delivery arrangement (68%). However, the quality of description of interventions and assessment of implementation outcomes are often suboptimal, hindering their replication and implementation downstream."
A framework for the evaluation and reporting of incidental findings in clinical genomic testing
CM Brown et al, EJHG, April 2, 2024
(Posted: Apr 02, 2024 9AM)
From the abstract: "Herein we describe a framework developed to guide the evaluation and return of IFs encountered in probands undergoing clinical genome sequencing (cGS). The framework prioritizes clinical significance and actionability of IFs and follows a stepwise approach with stopping points at which IFs may be recommended for return or not. Over 18 months, implementation of the framework in a clinical laboratory facilitated the return of actionable IFs in 37 of 720 (5.1%) individuals referred for cGS. "
How to support the transition to AI-powered healthcare.
et al. Nat Med 2024 3 (3) 609-610
(Posted: Mar 25, 2024 8AM)
From the article: "To make health systems more sustainable in the long-term, incentivize artificial intelligence (AI) and digital technologies that are grounded on careful testing and real-world validation. We are confident that this transition to ‘AI-powered’ healthcare will occur and that it has the potential to bring widespread public good. At the same time, we believe that these benefits will realize more steadily and more quickly with carefully designed clinical studies and evidence-based implementation of AI algorithms and devices in the real world."
Training Institute for Dissemination and Implementation Research in Genomics and Precision Public Health (TIDR-GPPH)
UNC Precision Public Health Network, March 2024
(Posted: Mar 20, 2024 7AM)
From the website: "This facilitated course is intended to provide participants with a thorough grounding in conducting dissemination and implementation (D&I) research with a specific focus on genomics and precision public health.is. TIDIR-GPPH will be a hybrid course including training through open access Training Institute for Dissemination and Implementation Research in Cancer (TIDIRC) with assigned reading material and office hours and a 2-day in-person event. Faculty and guest lecturers consist of leading experts in D&I theories, models, and frameworks; intervention fidelity and adaptation; stakeholder engagement and partnership for D&I; research methods and study designs for D&I; and measures and outcomes for D&I. "
Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications.
Marije A van der Geest et al. Eur J Hum Genet 2024 3
(Posted: Mar 18, 2024 9AM)
From the abstract: "In total, we identified nine ELSI aspects, such as (perceived) professional responsibilities, implications for consent and cost-effectiveness. The identified ELSI aspects brought forward necessary trade-offs for GHPs to consciously take into account when considering responsible implementation of systematic reanalysis of NGS data in routine diagnostics, balancing the various strains on their laboratories and personnel while creating optimal results for new and former patients. "
Genomes in clinical care
O Riess et al, NPJ Genomic Medicine, March 14, 2024
(Posted: Mar 18, 2024 9AM)
From the abstract: "In the era of precision medicine, genome sequencing (GS) has become more affordable and the importance of genomics and multi-omics in clinical care is increasingly being recognized. However, how to scale and effectively implement GS on an institutional level remains a challenge for many. Here, we present Genome First and Ge-Med, two clinical implementation studies focused on identifying the key pillars and processes that are required to make routine GS and predictive genomics a reality in the clinical setting. "
Determining priority indicators of utility for genomic testing in rare disease: a Delphi study
Z Fehlberg et al, Genetics in Medicine, March 6, 2024
(Posted: Mar 07, 2024 8AM)
From the abstract: "This study obtained expert consensus on different utility indicators that are considered a priority in determining the value of genomic testing in rare disease. Twenty indicators reached consensus as a priority in value assessment, including those relating to prognostic information, timeliness of results, practical and health care outcomes, clinical accreditation, and diagnostic yield. Indicators may inform a standardized approach to evidence generation and assessment to guide future research, decision-making, and implementation efforts. "
To warrant clinical adoption AI models require a multi-faceted implementation evaluation
D van De Sande et al, NPJ Digital Medicine, March 6, 2024
(Posted: Mar 06, 2024 9AM)
From the abstract: "Despite artificial intelligence (AI) technology progresses at unprecedented rate, our ability to translate these advancements into clinical value and adoption at the bedside remains comparatively limited. This paper reviews the current use of implementation outcomes in randomized controlled trials evaluating AI-based clinical decision support and found limited adoption. To advance trust and clinical adoption of AI, there is a need to bridge the gap between traditional quantitative metrics and implementation outcomes to better grasp the reasons behind the success or failure of AI systems and improve their translation into clinical value. "
Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.
Ruidong Xiang et al. Genome Med 2024 2 (1) 33
(Posted: Feb 22, 2024 11AM)
From the abstract: " We review the latest potential benefits of PGS in the clinic and challenges to implementation. PGS could augment risk stratification through combined use with traditional risk factors (demographics, disease-specific risk factors, family history, etc.), to support diagnostic pathways, to predict groups with therapeutic benefits, and to increase the efficiency of clinical trials. However, there exist challenges to maximizing the clinical utility of PGS, including FAIR (Findable, Accessible, Interoperable, and Reusable) use and standardized sharing of the genomic data needed to develop and recalculate PGS, the equitable performance of PGS across populations."
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
NJ Lennon et al, Nature Medicine, February 19, 2024
(Posted: Feb 20, 2024 7AM)
From the abstract: " From an initial list of 23 conditions, ten were selected for implementation based on PRS performance, medical actionability and potential clinical utility, including cardiometabolic diseases and cancer. Standardized metrics were considered in the selection process, with additional consideration given to strength of evidence in African and Hispanic populations. We then developed a pipeline for clinical PRS implementation (score transfer to a clinical laboratory, validation and verification of score performance), and used genetic ancestry to calibrate PRS mean and variance, utilizing genetically diverse data from 13,475 participants of the All of Us Research Program cohort to train and test model parameters. "
Clinical implementation of preemptive pharmacogenomics in psychiatry.
Maria Skokou et al. EBioMedicine 2024 2 105009
(Posted: Feb 18, 2024 7AM)
From the abstract: "We report our findings from a multicenter, large-scale, prospective study of pre-emptive genome-guided treatment named as PREemptive Pharmacogenomic testing for preventing Adverse drug REactions (PREPARE) in a large cohort of psychiatric patients (n = 1076) suffering from schizophrenia, major depressive disorder and bipolar disorder.We show that patients with an actionable phenotype belonging to the PGx-guided arm (n = 25) present with 34.1% less adverse drug reactions compared to patients belonging to the control arm (n = 36), 41.2% less hospitalisations (n = 110 in the PGx-guided arm versus n = 187 in the control arm) and 40.5% less re-admissions (n = 19 in the PGx-guided arm versus n = 32 in the control arm). "
AI-based diabetes care: risk prediction models and implementation concerns
SCY Wang et al, NPJ Digital Medicine, February 15, 2024
(Posted: Feb 16, 2024 4PM)
From the abstract: " The utilization of artificial intelligence (AI) in diabetes care has focused on early intervention and treatment management. Notably, usage has expanded to predict an individual’s risk for developing type 2 diabetes. A scoping review shows that while most studies used unimodal AI models, multimodal approaches were superior because they integrate multiple types of data. However, creating multimodal models and determining model performance are challenging tasks given the multi-factored nature of diabetes. For both unimodal and multimodal models, there are also concerns of bias with the lack of external validations and representation of race, age, and gender in training data."
Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.
Caitlin G Allen et al. Am J Hum Genet 2024 2
(Posted: Feb 03, 2024 9AM)
From the abstract: "Over 14 months, 20,478 participants enrolled, and 14,053 samples were collected. The majority selected at-home sample collection followed by clinical sample collection and collection at community events. Participants were predominately female, White (self-identified), non-Hispanic, and between the ages of 40-49. Participants enrolled through community events were the most racially diverse and the youngest. Half of those enrolled completed the program. We identified 137 individuals with pathogenic or likely pathogenic variants for CDC Tier 1 conditions. The majority (77.4%) agreed to genetic counseling, and of those that agreed, 80.2% completed counseling. "
Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
Mario Cesare Nurchis et al. JAMA Netw Open 2024 1 (1) e2353514
(Posted: Jan 30, 2024 8AM)
From the abstract: "Is whole-genome sequencing (WGS) more cost-effective than whole-exome sequencing for children with suspected genetic disorders?
The results of this economic evaluation of a cohort of 870 pediatric patients suggest that adopting WGS as a first-tier strategy would be cost-effective at a willingness-to-pay threshold of €30 000 to €50 000 (US $32?625-$54?375), specifically for the diagnosis of severely ill infants with suspected genetic disorders. ng These findings suggest that wider use of WGS may minimize diagnostic delays and facilitate timely implementation of appropriate treatments. "
We need to stand together on the shoulders of giants: consolidating effective approaches for translating genomics into practice with implementation science.
Stephanie Best et al. Public Health Genomics 2023 12
(Posted: Jan 22, 2024 8AM)
From the article: "Adopting a genomics learning implementation system approach would provide opportunities to bring together clinical and implementation data from observational studies and clinical trials, providing real-world evidence. These findings could be housed in the Digital Implementation Toolshed (DIT), an online bi-directional platform for resources generated from implementation science activity in genomics. The highly curated DIT (Fig. 1) would augment the Centers for Disease Control and Prevention Genomics and Precision Health Weekly Update. " "
Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II.
Mirthe J Klein Haneveld et al. Genet Med 2024 1 101071
(Posted: Jan 15, 2024 10AM)
From the abstract: "70 internationally published guidelines, addressing the diagnosis and/or management of 28 conditions, were included. The methodological rigor of development was highly variable with limited reporting of literature searches and consensus methods. Comprehensive, high-quality guidelines are lacking for many rare genetic neurodevelopmental disorders. Use and transparent reporting of sound development methodologies, active involvement of affected individuals and families, robust conflict of interest procedures, and attention to implementation are vital for enhancing the impact of clinical practice recommendations."
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study
Z Fehlberg et al, EJHG, January 12, 2023
(Posted: Jan 12, 2024 7AM)
From the abstract: " Automating reanalysis of genomic data for undiagnosed rare disease patients presents a paradigm shift in how clinical genomics is delivered. We aimed to map the current manual and proposed automated approach to reanalysis and identify possible implementation strategies to address clinical and laboratory staff’s perceived challenges to automation. "
Phylogenomic early warning signals for SARS-CoV-2 epidemic waves
KO Drake et al, EBiomedicine, January 8, 2024
(Posted: Jan 10, 2024 8AM)
From the abstract: "Epidemic waves of coronavirus disease 2019 (COVID-19) infections have often been associated with the emergence of novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants. Rapid detection of growing genomic variants can therefore serve as a predictor of future waves, enabling timely implementation of countermeasures. Using phylogenomic analysis, we identified leading indicators that would have generated EWS ahead of significant increases in COVID-19 hospitalisations between August 2020 and March 2022. Our results also show that EWS lead time is sensitive to the threshold set for the number of false positive (FP) EWS. "
Next Generation Public Health Genomics: A Call to Assess the Equitable Implementation, Population Health Impact, and Sustainability of Precision Public Health Applications
MC Roberts et al, Public Health Genomics, December 22, 2023
(Posted: Dec 22, 2023 10AM)
From the article: "The field of Public Health Genomics recently celebrated its twenty-fifth anniversary. Defined by the CDC as responsible and effective translation of genome-based knowledge and technologies for the benefit of population health, public health genomics applications have expanded beyond newborn screening to other applications poised to improve public health. Yet despite the promise and potential for public health genomics, the
population health impact and sustainability of public health genomics applications has yet to be fully measured and achieved. Further access to public health genomics applications has been lower among underrepresented racial and ethnic communities, rural communities, and groups with lower education and income, deepening concerns that the field could exacerbate rather than redress health inequities. "
Polygenic Risk Prediction in Diverse Populations and Contexts: Scientific and Ethical Considerations
ELSI Forum Webinar, January 12, 2024
(Posted: Dec 20, 2023 9AM)
From the website: "The differential performance of polygenic risk scores (PRS) by population genetic background is a well-known scientific concern and one of the most important barriers to their equitable translation for clinical use. Not only must the social repercussions of how people are grouped for test development be considered, but the communication of their context specificity and differential performance to patients and their clinicians must be carefully managed. Drawing on recent research experiences with the development, validation, and implementation of PRS for common complex disease risk, this webinar will explore the scientific and ethical considerations relevant to the widespread adoption of PRS for clinical care."
Genomic medicine year in review: 2023.
Teri A Manolio et al. Am J Hum Genet 2023 12 (12) 1992-1995
(Posted: Dec 14, 2023 8AM)
From the article: "Highlighted papers in genomic medicine implementation research in 2023 continued several themes from earlier years, particularly in diagnostic testing of critically ill infants, genetic diagnosis of rare syndromes, and prenatal and population-based screening for monogenic syndromes. Pharmacogenomics was also highlighted with the first large-scale, multi-country clinical trial of multiple gene-drug pairs. The success of the first CRISPR-Cas9-based therapeutic trial in sickle cell disease and the independence of polygenic risk scores and family history in complex disease risk assessment were also highlighted, as were the high rate of insurance denials for exome sequencing that frequently turned out to be diagnostic. "
Primary Care Provider Receptivity to Multi-Cancer Early Detection Test Use in Cancer Screening
CV Chambers et al, JPM, November 2023
(Posted: Nov 30, 2023 9AM)
From the abstract: "Multi-cancer early detection tests (MCEDs) are blood-based tests that detect biomarkers released or induced by cancer cells. If MCED tests are shown to be safe and effective in cancer screening, they are likely to be ordered and managed in primary care. To understand primary care providers’ support for and concerns about the implementation and management of MCED testing, the research team developed a cross-sectional survey that was sent to 939 primary care providers (physicians, residents/fellows, and advanced practice providers) in a large academic health system. "
Patient-Level Exposure to Actionable Pharmacogenomic Medications in a Nationally Representative Insurance Claims Database
ML BIanchini et al, JPM, November 3, 2023
(Posted: Nov 06, 2023 10AM)
From the abstract: " The prevalence of exposure to pharmacogenomic medications is well established but little is known about how long patients are exposed to these medications. Aim: Our objective was to describe the amount of exposure to actionable pharmacogenomic medications using patient-level measures among a large nationally representative population using an insurance claims database. Methods: Our retrospective cohort study included adults (18+ years) from the IQVIA PharMetrics® Plus for Academics claims database with incident fills of 72 Clinical Pharmacogenetics Implementation Consortium level A, A/B, or B medications from January 2012 through September 2018. "
Strengthening digital health equity by balancing techno-optimism and techno-skepticism through implementation science.
Jorge A Rodriguez et al. NPJ Digit Med 2023 11 (1) 203
(Posted: Nov 03, 2023 8AM)
From the abstract: " The promise that technology can revolutionize care by better connecting us to our patients, overcoming analog barriers to care, and addressing health disparities is grounded in “techno-optimism.” We advocate for organizational leaders to inform their digital health equity strategies with a balanced measure of “techno-skepticism”, grounded in implementation science, that can ensure alignment between health technology and health equity.
"
Digital health tools in genomics: Advancing diversity, equity and inclusion
D Assamad et al, Public Health Genomics, November 2023
(Posted: Nov 02, 2023 9AM)
From the paper: "Patient-facing digital genomic tools are increasingly being used to facilitate the delivery of genetics services including patient intake, phenotyping, education, counseling, and result reporting. A recent systematic review found that digital tools improved the workflow of genetics providers and service efficiencies. Existing data on patient experiences also demonstrate high acceptance of pre-test digital tools across various contexts, with most
patients endorsing and expressing high levels of satisfaction with these tools. However, a closer examination of digital genomic tools reveals a concerning lack of consideration for diversity,
equity, and inclusion (DEI) principles in their design, evaluation, and implementation within health systems [ "
Cystic Fibrosis.
Hartmut Grasemann et al. N Engl J Med 2023 11 (18) 1693-1707
(Posted: Nov 02, 2023 9AM)
From the paper: "Care for patients with cystic fibrosis has undergone transformative changes over the past decade and serves as an example of how an understanding of the functional consequences of a genetic disease can lead to improved outcomes in affected persons. Substantial progress had been made through the implementation of therapies addressing key downstream manifestations of the disease such as mucus accumulation in the airways and persistent airway infections. In addition, the introduction of small-molecule drugs that address the underlying molecular defects — cystic fibrosis transmembrane conductance regulator (CFTR) modulators — has resulted in unprecedented improvements in the health of many persons with cystic fibrosis."
Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions
S Fatumo et al, Genome Medicine, October 30, 2023
(Posted: Oct 30, 2023 8AM)
From the abstract: " Polygenic risk scores (PRS), which combine multiple contributing variants to predict disease risk, have the potential to influence the implementation for precision medicine. However, the majority of existing PRS were developed from European data with limited transferability to African populations. We (1) discuss the factors contributing to the poor transferability of PRS in African populations, (2) showcase the novel Africa genomic datasets for PRS development, (3) explore the potential clinical utility of PRS in African populations, and (4) provide insight into the future of PRS in Africa."
The past 10 years of cystic fibrosis treatment: the road to cure.
Claudio Castaños et al. Lancet Respir Med 2023 10 (10) 864-865
(Posted: Oct 23, 2023 7PM)
From the paper: " Cystic fibrosis is a genetic disease associated with high rates of premature death. There have been many advances in clinical care for cystic fibrosis during the past 50 years, such as the widespread implementation of newborn screening for early diagnosis, enhanced mucociliary clearance techniques, and improvements in nutrition (including adjusted pancreatic enzyme replacement therapy and a high-energy, high-fat diet). However, the life expectancy of patients with cystic fibrosis is still substantially shorter than that of the general population."
Autonomous AI systems in the face of liability, regulations and costs.
Agustina D Saenz et al. NPJ Digit Med 2023 10 (1) 185
(Posted: Oct 07, 2023 8AM)
From the abstract: "This perspective explores the liability implications for physicians, hospitals, and creators of AI technology, as well as the evolving regulatory landscape and payment models. Physicians may be favored in malpractice cases if they follow rigorously validated AI recommendations. However, AI developers may face liability for failing to adhere to industry-standard best practices during development and implementation. "
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
DK Tobias et al, Nature Medicine, October 5, 2023
(Posted: Oct 05, 2023 9AM)
From the abstract: "This international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review across the key pillars of precision medicine (prevention, diagnosis, treatment, prognosis) in four recognized forms of diabetes (monogenic, gestational, type 1, type 2). These reviews address key questions about the translation of precision medicine research into practice. Although not complete, owing to the vast literature on this topic, they revealed opportunities for the immediate or near-term clinical implementation of precision diabetes medicine. "
Unequal global implementation of genomic newborn screening.
Ahmad N Abou Tayoun et al. Nat Rev Genet 2023 9
(Posted: Sep 20, 2023 7AM)
From the abstract: "Studies of genomic newborn screening are highly skewed towards populations in high-income countries. The evidence generated by these studies will be similarly biased and is likely to lead to disparate global implementation. Studies inclusive of historically under-represented populations are needed for equitable global access to genomic newborn screening. "
Extending an Antiracism Lens to the Implementation of Precision Public Health Interventions.
Caitlin G Allen et al. Am J Public Health 2023 8 e1-e9
(Posted: Sep 06, 2023 9AM)
From the abstract: Growing concerns underscore the potential for precision-based approaches to exacerbate health disparities by relying on biased data inputs and recapitulating existing access inequities. To achieve its full potential, precision public health must focus on addressing social and structural drivers of health and prominently incorporate equity-related concerns, particularly with respect to race and ethnicity. In this article, we discuss how an antiracism lens could be applied to reduce health disparities and health inequities through equity-informed research, implementation, and evaluation of precision public health interventions."
Assessment of clinically actionable pharmacogenetic markers to stratify anti-seizure medications.
Debleena Guin et al. Pharmacogenomics J 2023 8
(Posted: Aug 28, 2023 1PM)
From the abstract: "A total of 270 articles were retrieved with PGx evidence associated with 19 ASMs including 178 variants across 93 genes, classifying 26 genetic variants as benign/ likely benign, fourteen as drug response markers and three as risk factors for drug response. Only seventeen of these were replicated, with accuracy (up to 95%) in predicting PGx outcomes specific to six ASMs. Eight out of seventeen variants have FDA-approved PGx drug labelling for clinical implementation."
Transdisciplinary Conference for Future Leaders in Precision Public Health, November 9, 2023
UNC Chapel Hill, Virtual Meeting, November 9, 2023
(Posted: Aug 22, 2023 10AM)
From the website: "We kicked off the Precision Public Health Network with our first transdisciplinary conference in 2021. We will build on the momentum from our first conference at our 2023 conference with the theme “Applying Implementation Science to Precision Public Health.” We will host a full day conference on Thursday, November 9 with expert speakers, breakout networking session, and a virtual poster session. A follow-up workshop will be held on Thursday, November 16 to discuss priority setting for the field. Register today. "
AI in Medicine—Focus on Clinical Outcomes, Patient-Centered Care, Quality, and Equity
R Khera et al, JAMA, Auguts 11, 2023
(Posted: Aug 11, 2023 11AM)
Recent emergence of large language models (LLMs) in highly visible and interactive applications has ignited interest in how new AI technologies can improve medicine and health for patients, the public, clinicians, health systems, and more. The rapidity of these developments, their potential impact on health care, and JAMA’s mission to publish the best science that advances medicine and public health compel the journal to renew its commitment to facilitating the rigorous scientific development, evaluation, and implementation of AI in health care.
Persistent Underutilization of BRCA Testing for Breast and Ovarian Cancer in the United States: Implications for Health Disparities
L Shi et al, CDC Blog Post, July 25, 2023
(Posted: Jul 25, 2023 11AM)
Two recent studies document ongoing underutilization and disparities in genetic testing for patients with breast and ovarian cancer. The two studies demonstrate the importance of population-level data to track progress in implementation, outcomes, and disparities in genomic medicine. The studies also show how diverse data sources, such as state-based cancer registries, laboratory, EHR, administrative claims, and survey data, each with its own strengths and limitations, can be used to help build the evidence base on genetic testing utilization and disparities.
Rapid Genome Sequencing for Diagnosing Critically Ill Infants and Children: From Evidence to Equitable Implementation
CDC webinar, November 30, 2023
(Posted: Jul 21, 2023 9AM)
Dr. Stephen F. Kingsmore is president/CEO of Rady Children’s Institute for Genomic Medicine (RCIGM), where he leads a multidisciplinary team that is pioneering the use of rapid genome sequencing to diagnose critically ill children, implement precision medicine, and screen for approximately 500 genetic disorders. Dr. Kingsmore holds two Guinness World Records for achieving the fastest molecular diagnosis using whole genome sequencing.
Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?
Danya F Vears et al. Pharmgenomics Pers Med 2023 7 681-691
(Posted: Jul 11, 2023 11AM)
This review article synthesizes the potential benefits of wide-scale implementation of genomic newborn screening, as well as its practical and ethical issues, including obtaining appropriate consent, and health system implications. A more in-depth understanding of the barriers associated with implementing genomic newborn screening is critical to the success of GNBS programs, both from a practical perspective and also in order to maintain public trust in an important public health initiative.
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Thomas Hays et al. Circ Genom Precis Med 2023 7 e004050
(Posted: Jul 10, 2023 8AM)
We conducted a prospective evaluation of rGS to improve the care of infants with complex CHD in our cardiac neonatal intensive care unit. In a cohort of 48 infants with complex CHD, rGS diagnosed 14 genetic disorders in 13 (27%) individuals and led to changes in clinical management in 8 (62%) cases with diagnostic results. These included 2 cases in whom genetic diagnoses helped avert intensive, futile interventions before cardiac neonatal intensive care unit discharge, and 3 cases in whom eye disease was diagnosed and treated in early childhood.
Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation
LV Milko et al, IJNS June 2023
(Posted: Jun 28, 2023 11AM)
Genomic sequencing offers an unprecedented opportunity to detect inherited variants that are implicated in rare Mendelian disorders, yet there are many challenges to overcome before this technology can routinely be applied in the healthy population. The age-based genomic screening (ABGS) approach is a novel alternative to genome-scale sequencing at birth that aims to provide highly actionable genetic information to parents over the course of their child’s routine health care. ABGS utilizes an established metric to identify conditions with high clinical actionability and incorporates information about the age of onset and age of intervention to determine the optimal time to screen for any given condition.
Data for Action in Public Health Genomics: Ensuring Equitable Implementation of Genomic Applications Across the Lifespan
MJ Khoury et al CDC Blog Post, June 23, 2023
(Posted: Jun 24, 2023 10AM)
Our office is currently identifying gaps in the effective implementation of tier 1 genomic applications. These include the limitations of current public health and healthcare data sources for tracking trends in genetic testing and identifying health disparities and their underlying contributors. These data are needed more than ever to drive practice, programs, and policy, to fulfill the promise of genomics to improve population health and to reduce health inequities.
Population-based Genomic Screening Programs: The Need for Optimal Implementation to Ensure Health Equity
N Rao et al, CDC Blog Post, June 20, 2023
(Posted: Jun 20, 2023 1PM)
Differences in population genetic screening program design influence enrollment rates, particularly during the recruitment phase. In the absence of careful attention to how communities are engaged about genetic screening, population genetic screening may not reach all people, and existing health disparities could be widened. The effectiveness of population-wide screening to identify at-risk individuals will subsequently be diminished.
The role of polygenic risk scores in breast cancer risk perception and decision-making.
Leslie Riddle et al. J Community Genet 2023 6
(Posted: Jun 20, 2023 7AM)
Polygenic risk scores (PRS) have the potential to improve the accuracy of clinical risk assessments, yet questions about their clinical validity and readiness for clinical implementation persist. Understanding how individuals integrate and act on the information provided by PRS is critical for their effective integration into routine clinical care, yet few studies have examined how individuals respond to the receipt of polygenic risk information.
Tracking the Contributions of Implementation Science to the Population Health Impact of Genomics and Precision Health: A New Knowledge Base
M Clyne et al, CDC blog post, June 16, 2023
(Posted: Jun 19, 2023 1PM)
Successful implementation of evidence-based genomic and precision health interventions requires an understanding of what works and what doesn’t work within the context of various clinical and public health settings. Research and evaluation that incorporate implementation science tools and methods into the translation of these interventions facilitate this. Here we present a new CDC knowledge base, a collection of these implementation science studies, and a summary of their collective contributions to date.
Epidemic modelling of monitoring public behavior using surveys during pandemic-induced lockdowns.
Andreas Koher et al. Commun Med (Lond) 2023 6 (1) 80
(Posted: Jun 11, 2023 8AM)
Implementing a lockdown for disease mitigation is a balancing act: Non-pharmaceutical interventions can reduce disease transmission significantly, but interventions also have considerable societal costs. Therefore, decision-makers need near real-time information to calibrate the level of restrictions.
Here, we find that, unlike mobility, self-reported contacts decreased significantly in all regions before the nation-wide implementation of non-pharmaceutical interventions and improved predicting future hospitalizations compared to mobility data. A detailed analysis of contact types indicates that contact with friends and strangers outperforms contact with colleagues and family members (outside the household) on the same prediction task.
Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process
S van der Hout et al, EJHG, June 6, 2023
(Posted: Jun 06, 2023 8AM)
Expanded carrier screening (ECS) entails a screening offer for multiple recessive disorders at the same time, and allows testing of individuals or couples regardless of ancestry or geographic origin. Children of consanguineous couples have a higher-than-average risk of manifesting autosomal recessive disorders. This study aims to contribute to the responsible implementation of ECS for consanguineous couples.
A Review of the Role of Artificial Intelligence in Healthcare
A Al Kuweiti et al, J Per Med, June 5, 2023
(Posted: Jun 05, 2023 8AM)
AI meets several technical, ethical, and social challenges, including privacy, safety, the right to decide and try, costs, information and consent, access, and efficacy, while integrating AI into healthcare. The governance of AI applications is crucial for patient safety and accountability and for raising HCPs’ belief in enhancing acceptance and boosting significant health consequences. Effective governance is a prerequisite to precisely address regulatory, ethical, and trust issues while advancing the acceptance and implementation of AI. Since COVID-19 hit the global health system, the concept of AI has created a revolution in healthcare, and such an uprising could be another step forward to meet future healthcare needs.
Clinician Perspectives on Clinical Decision Support for Familial Hypercholesterolemia
H Bangash et al, J Per Med, May 31, 2023
(Posted: May 31, 2023 7AM)
We deployed CDS for FH at an academic medical center and sought clinician insights using an implementation survey. In November 2020, the FH CDS was deployed in the electronic health record at all Mayo Clinic sites in two formats: a best practice advisory (BPA) and an in-basket alert. Over three months, 104 clinicians participated in the survey (response rate 11.1%). Most clinicians (81%) agreed that CDS implementation was a good option for identifying FH patients; 78% recognized the importance of implementing the tool in practice, and 72% agreed it would improve early diagnosis of FH.
Translating predictive analytics for public health practice: A case study of overdose prevention in Rhode Island.
Bennett Allen et al. Am J Epidemiol 2023 5
(Posted: May 21, 2023 8AM)
Prior applications of machine learning to population health have relied on conventional model assessment criteria, limiting the utility of models as decision supports for public health practitioners. To facilitate practitioner use of machine learning as decision support for area-level intervention, this study developed and applied four practice-based predictive model evaluation criteria (implementation capacity, preventive potential, health equity, and jurisdictional practicalities). We used a case study of overdose prevention in Rhode Island to illustrate how these criteria could inform public health practice and health equity promotion.
Future Forecasting for Research and Practice in the Public Health Translation of Genomic Discovery
Public Health Genomics, Call for Papers, May 2023
(Posted: May 02, 2023 10AM)
A call for a special collection highlighting the current breadth of research and practice opportunities for genomics to have a positive public health benefit. Submissions include but are not limited to the following questions: What innovations — in communications, community engagement, implementation, health care delivery, and public policy — are needed; How can we develop a sustainable workforce; How can we foster the transdisciplinary collaborations needed for translational research aiming to integrate genomics into existing public health programs/
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Marina Cuchel et al. J Am Heart Assoc 2023 4 e029175
(Posted: May 02, 2023 8AM)
Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by early-onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking. Results from the Family Heart Database indicate HoFH is systemically underdiagnosed and undertreated. Earlier screening, aggressive lipid-lowering treatments, and guideline implementation are required to reduce disease burden in HoFH.
Evaluating cancer genetic services in a safety net system: overcoming barriers for a lasting impact beyond the CHARM research project
S Okuyama et al, J Comm Genetics, May 1, 2023
(Posted: May 02, 2023 8AM)
The Cancer Health Assessments Reaching Many (CHARM) study evaluated ways to increase access to genetic testing for individuals in underserved populations at risk for hereditary cancer syndromes (HCS). Here, we report the successful implementation of CHARM in a low-resource environment and the development of sustainable processes to continue genetic risk assessment in this setting. Through iterative and collaborative stakeholder engagement, the team identified barriers and developed solutions that would both facilitate participation in CHARM and be feasible to implement and sustain long term in clinical care.
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
S Singh et al, IJNS, April 2023
(Posted: Apr 09, 2023 8AM)
During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively.
It Takes an Average of 17 Years for Evidence to Change Practice-the Burgeoning Field of Implementation Science Seeks to Speed Things Up.
Rita Rubin et al. JAMA 2023 4
(Posted: Apr 08, 2023 0PM)
Put simply, “implementation science is really trying to close that gap between what we know and what we do.” “Implementation science is about bringing the best possible care to everyone.” Chasm might be a better word to describe the gap between research and practice. A frequently cited estimate puts that gap at 17 years on average, and even then, only 1 in 5 evidence-based interventions make it to routine clinical practice. To some degree, the interventions do vary greatly in terms of their complexity. Some interventions may be easier to administer. In historically marginalized populations, the evidence-to-practice gap is often even more yawning.
Optimizing communication strategies and designing a comprehensive program to facilitate cascade testing for familial hypercholesterolemia.
Gemme Campbell-Salome et al. BMC health services research 2023 4 (1) 340
(Posted: Apr 07, 2023 8AM)
We aimed to optimize communication strategies to support family communication about familial hypercholesterolemia (FH) and improve cascade testing uptake among at-risk relatives. Individuals and families with FH provided feedback on multiple strategies including: a family letter, digital tools, and direct contact.
Feedback from participants was collected via dyadic interviews (n = 11) and surveys (n = 98) on communication strategies and their proposed implementation to improve cascade testing uptake. We conducted a thematic analysis to identify how to optimize each strategy.
Artificial Intelligence in Medicine.
Andrew L Beam et al. The New England journal of medicine 2023 3 (13) 1220-1221
(Posted: Mar 30, 2023 4PM)
Medicine is much different from other areas where AI is being applied. AI enables new discoveries and improved processes in the entire health care continuum; ethical, governance, and regulatory considerations are critical in the design, implementation, and integration of every component of the AI applications and systems. Because of concerns about both utility and safety, new applications will generally have to adhere to the same standards applied to other medical technologies.
Design and Implementation of a National SARS-CoV-2 Monitoring Program in England: REACT-1 Study.
Paul Elliott et al. American journal of public health 2023 3 e1-e10
(Posted: Mar 30, 2023 8AM)
The REal-time Assessment of Community Transmission-1 (REACT-1) Study was funded by the Department of Health and Social Care in England to provide reliable and timely estimates of prevalence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection over time, by person and place.
The study provided inter alia real-time data on SARS-CoV-2 prevalence over time, by area, and by sociodemographic variables; estimates of vaccine effectiveness; and symptom profiles, and detected emergence of new variants based on viral genome sequencing.
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores
M Siermann et al, EJHG, March 20, 2023
(Posted: Mar 21, 2023 9AM)
We found that most healthcare professionals were concerned about the prematurity of introducing PGT-P into clinical practice. They had various ethical considerations, such as concerns related to validity and utility of PGT-P, limited embryos and options, and difficulties for prospective parents regarding comprehension and informed decision-making. Positive aspects were also identified, e.g., regarding reproductive autonomy and potential health benefits. Overall, most healthcare professionals considered that clinical implementation of PGT-P is premature.
COVID-19 Forecasting and Mathematical Modeling
CDC, March 2023
(Posted: Mar 20, 2023 2PM)
CDC is working closely with state, tribal, local, and territorial health departments, and other public health partners, to respond to the COVID-19 pandemic. Forecasts of disease burden help inform public health decision making by projecting the likely impact of COVID-19 in the next few weeks. These forecasts are generated using mathematical models by CDC partners in the COVID-19 Forecast Hub. Forecasts are used to inform public health decisions about pandemic planning, resource allocation, implementation of social distancing measures, and other interventions.
Overcoming the challenges to implementation of artificial intelligence in pathology.
Jorge S Reis-Filho et al. Journal of the National Cancer Institute 2023 3
(Posted: Mar 20, 2023 7AM)
The application of artificial intelligence (AI) to digital whole slide images has the potential of democratizing the access to expert pathology and affordable biomarkers, by supporting pathologists in the provision of timely and accurate diagnosis as well as supporting oncologists by extracting prognostic and predictive biomarkers directly from tissue slides. The long-awaited adoption of AI in pathology, however, has not materialized, and the transformation of pathology is happening at a pace that is much slower than that observed in other fields.
Implications of Genomic Newborn Screening for Infant Mortality
MH Wojick et al, IJNS, March 2023
(Posted: Mar 09, 2023 1PM)
Current diagnostic genetic workflows are designed to initiate genetic testing after an infant develops disease symptoms, at which time therapies may not be clinically useful. There is increasing interest and an international effort to incorporate genome-wide sequencing into newborn screening approaches, though ethical considerations and other implementation concerns remain unresolved. Here, we comment on the implications of this approach for infant mortality reduction.
Pharmacogenomics-informed clozapine therapy.
Chad A Bousman et al. The lancet. Psychiatry 2023 2 (3) 160-162
(Posted: Feb 28, 2023 7AM)
Pharmacogenomics-informed prescribing is a strategy that leverages a person's genomic profile to inform the selection and dosing of medications, and it is typically anchored by associations between genomic variants and pharmacokinetic parameters (eg, medication plasma concentrations). Expert groups, such as the Clinical Pharmacogenetics Implementation Consortium and the Dutch Pharmacogenetics Working Group, have collectively developed dosing guidelines for 24 psychotropic medications.
Implementation costs of hospital-based computerised decision support systems: a systematic review.
Thomasina Donovan et al. Implementation science : IS 2023 2 (1) 7
(Posted: Feb 27, 2023 9AM)
Implementation costs were most frequently reported under the ‘evaluative and iterative strategies’ cluster, followed by ‘provide interactive assistance’. Labour was the largest implementation-related cost in the included papers, irrespective of implementation strategy. Other reported costs included consumables, durable assets and physical space, which was mostly associated with stakeholder training. The methods used to cost implementation were often unclear. There was variation across studies in the overall quality of reporting.
How Can Implementation Science Improve the Care of Familial Hypercholesterolaemia?
Mitchell Sarkies et al. Current atherosclerosis reports 2023 2
(Posted: Feb 25, 2023 6AM)
Gaps between evidence and practice, such as underutilization of genetic testing, family cascade testing, failure to achieve LDL-cholesterol goals and low levels of knowledge and awareness, have been identified through clinical registry analyses and clinician surveys. Implementation science theories, models and frameworks have been applied to assess barriers and enablers in the literature specific to local contextual factors (e.g. stages of life).
The Promise and Challenges of Implementing Pharmacogenomics to Improve Population Health: Where Are we Heading with Preemptive Pharmacogenomic Screening?
CDC Webinar, September 14, 2023
(Posted: Feb 24, 2023 8AM)
With genotyping technologies now widely available and decreasing in cost, implementing pharmacogenomics into clinical practice is widely viewed as an initial step in mainstreaming genomic medicine. The benefits of pharmacogenomic testing before starting drug therapy has been well documented for several single gene-drug combinations. In addition, the clinical utility of a pre-emptive genotyping strategy using a pharmacogenetic panel is being rigorously assessed. However, major challenges of implementation lie at the point of integration into healthcare systems, including the modification of clinical pathways and a large knowledge gap in pharmacogenomics in the healthcare workforce.
Implementation of Population-Based Genetic Testing of Newborn Infants for Prediction of Hearing Loss in Ontario, Canada
CDC Webinar, April 19, 2023
(Posted: Feb 22, 2023 6AM)
In 2019, Newborn Screening Ontario launched a novel screening approach for genetic permanent hearing loss (PHL) risk involving universal testing of newborn dried blood spots for a panel of penetrant GJB2 and SLC26A4 variants associated with congenital or very early onset PHL. In July 2020, the less penetrant and relatively frequent GJB2 V37I variant was added to the panel. Babies homozygous for this variant, or heterozygous for this variant and a penetrant variant, are estimated to be at ~20% risk for congenital hearing loss and ~50% risk of developing moderate or more severe PHL by age 5.
Personalised Medicine—Implementation to the Healthcare System in Europe (Focus Group Discussions)
DS Wojtas et al, J Pers Med, February 21, 2023
(Posted: Feb 22, 2023 6AM)
Three focus groups were conducted, to achieve the purpose of this study, which was to identify the barriers and facilitators existing to the implementation of PM and to highlight existing practices in European countries. Personalized medicine faces many challenges and barriers before it can be successfully implemented in health systems. The translation of PM to European countries, differences in regulations, high costs of new technologies, and reimbursement are the reasons for the delay in PM implementation.
Design and Implementation of the All of Us Research Program COVID-19 Participant Experience (COPE) Survey.
Claire E Schulkey et al. American journal of epidemiology 2023 2
(Posted: Feb 20, 2023 6AM)
In response to the rapidly evolving COVID-19 pandemic, the All of Us Research Program longitudinal cohort study developed the COVID-19 Participant Experience (COPE) survey to better understand the pandemic experiences and health impacts of COVID-19 on diverse populations within the United States. Six survey versions were deployed between May 2020 and March 2021 covering mental health, loneliness, activity, substance use, and discrimination, as well as COVID-19 symptoms, testing, treatment, and vaccination. A total of 104,910 All of Us Research Program participants, of whom over 73% were from communities traditionally underrepresented in biomedical research, completed 275,201 surveys; 9,693 completed all six surveys
Re-envisioning community genetics: community empowerment in preventive genomics
H Wand et al, J Comm Genetics, February 11, 2023
(Posted: Feb 14, 2023 7AM)
This paper argues that any conversation about whether and how to design and implement polygenic risk scores (PGS) clinical services requires dynamic engagement with local communities, patients, and families. These parties often face the consequences, both positive and negative, of such uncertainties and should therefore drive clinical translation. As a collaborative effort between hospital stakeholders, community partners, and researchers, this paper describes a community-empowered co-design process for addressing uncertainty and making programmatic decisions about the implementation of PGS into clinical services.
A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.
Jesse J Swen et al. Lancet (London, England) 2023 2 (10374) 347-356
(Posted: Feb 06, 2023 11AM)
The benefit of pharmacogenetic testing before starting drug therapy has been well documented for several single gene-drug combinations. However, the clinical utility of a pre-emptive genotyping strategy using a pharmacogenetic panel has not been rigorously assessed. We found that genotype-guided treatment using a 12-gene pharmacogenetic panel significantly reduced the incidence of clinically relevant adverse drug reactions and was feasible across diverse European health-care system organizations and settings. Large-scale implementation could help to make drug therapy increasingly safe.
An innovative framework to determine the implementation level of personalized medicine: A systematic review
LA Cobos et al, Front in Public Health, February 3, 2023
(Posted: Feb 03, 2023 7AM)
Personalized medicine (PM) is now the new frontier in patient care. The application of this new paradigm extends to various pathologies and different patient care phases, such as diagnosis and treatment. Translating biotechnological advances to clinical routine means adapting health services at all levels is necessary.
This article aims to identify the elements for devising a framework that will allow the level of PM implementation in the country under study to be quantitatively and qualitatively assessed and that can be used as a guideline for future implementation plans.
Digital health interventions for non-communicable disease management in primary health care in low-and middle-income countries
S Xiong et al, NPJ Digital Medicine, February 1, 2023
(Posted: Feb 01, 2023 6AM)
Of 8866 results, 52 met eligibility criteria (31 reviews, 21 trials). Benchmarked against World Health Organization’s digital health classifications, only 14 out of 28 digital health intervention categories are found, suggesting critical under-use and lagging innovation. Digital health interventions’ effectiveness vary across outcomes: clinical (mixed), behavioral (positively inclined), and service implementation outcomes (clear effectiveness).
Pharmacogenomics: current status and future perspectives
M Pirmohamed, Nature Rev Genetics, January 30, 2023
(Posted: Jan 31, 2023 8AM)
Major challenges of implementation lie at the point of delivery into health-care systems, including the modification of current clinical pathways coupled with a massive knowledge gap in pharmacogenomics in the health-care workforce. Pharmacogenomics can also be used in a broader sense for drug discovery and development, with increasing evidence suggesting that genomically defined targets have an increased success rate during clinical development.
Early detection of visual impairment in young children using a smartphone-based deep learning system.
Wenben Chen et al. Nature medicine 2023 1
(Posted: Jan 27, 2023 7AM)
Videos from 3,652 children (=48 months in age; 54.5% boys) were prospectively collected to develop and validate this system. For detecting visual impairment, AIS achieved an area under the receiver operating curve (AUC) of 0.940 in an internal validation set and an AUC of 0.843 in an external validation set collected in multiple ophthalmology clinics across China. In a further test of AIS for at-home implementation by untrained parents or caregivers using their smartphones, the system was able to adapt to different testing conditions and achieved an AUC of 0.859.
Barriers and Facilitators to the Implementation of Personalised Medicine across Europe
DS Wojtas et al, J Per Med, January 23, 2023
(Posted: Jan 24, 2023 8AM)
Advancing Genomic Medicine in Africa: Work in Progress
J Osei et al, CDC Blog Post, January 9, 2023
(Posted: Jan 11, 2023 6AM)
Continued progress in genomic medicine to improve public health in Africa will require local-level capacity, expertise, and partnerships to conduct research and to assure the safe and equitable implementation of the field’s initiatives. Broad support from all interested parties including national and international governing authorities is crucial to guarantee the long-term sustainability of GM initiatives on the continent.
Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care.
Cuppen Edwin et al. JCO precision oncology 2022 12 e2200245
(Posted: Jan 04, 2023 6AM)
We review the current studies implementing WGTS in health care systems and provide a synopsis of the clinical evidence and insights into practical considerations for WGTS implementation. We reflect on regulatory, costs, reimbursement, and incidental findings aspects of this test. WGTS is an appropriate comprehensive clinical test for many tumor types and can replace multiple, cascade testing approaches currently performed.
Identifying and evaluating barriers for the implementation of machine learning in the intensive care unit
E D'hondt et al, Comm Med, December 21, 2022
(Posted: Dec 21, 2022 8AM)
Barriers and facilitators for the implementation of patient-centered care in cardiogenetics: a Delphi study among ERN GUARD-heart members
S van Pottelberghe et al, EJHG, December 21, 2022
(Posted: Dec 21, 2022 8AM)
The present study explores barriers and facilitators of implementing patient-centered care in cardiogenetics and contrasts various stakeholder viewpoints and perceived influence. The study revealed health system and organizational barriers and facilitators predominantly in implementing patient-centered care and only some patient-level factors. Some barriers and facilitators may be addressed easily (e.g., improving communication), while others may prove more complicated.
The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review
GAA Garavito et al, EJHG, December 14, 2022
(Posted: Dec 14, 2022 5PM)
The review included thirty articles drawing on sixteen countries. A wide range of factors was cited as critical to the successful implementation of genomics programmes. These included having policy frameworks, regulations, guidelines; clinical decision support tools; access to genetic counselling; and education and training for healthcare staff. The high costs of implementing and integrating genomics into healthcare were also often barriers to stakeholders. National genomics programmes are complex and require the generation of evidence and addressing implementation challenges.
Genomic Medicine Year in Review: 2022.
Manolio Teri A et al. American journal of human genetics 2022 12 (12) 2101-2104
(Posted: Dec 11, 2022 6AM)
Ten selected papers in genomic medicine implementation research in 2022 highlight the feasibility and practical value of various genomic screening methods, pharmacogenomic-guided treatment, and genomic-based rare disease diagnoses. Notably, genomic medicine resources showed the most substantial growth of any category reflecting in part the growing number of rigorous clinical and implementation studies that provide evidence and guidance for, and promote interest in, the clinical implementation of genomic medicine.
Implementation-effectiveness trial of systematic family health history based risk assessment and impact on clinical disease prevention and surveillance activities.
Wu R Ryanne et al. BMC health services research 2022 12 (1) 1486
(Posted: Dec 09, 2022 2PM)
19 primary care clinics at four geographically and culturally diverse U.S. healthcare systems. Participants: any English or Spanish-speaking adult with an upcoming appointment at an enrolling clinic. A personal and family health history based HRA with integrated guideline-based clinical decision support (CDS) was completed by each participant prior to their appointment. Risk reports were provided to patients and providers to discuss at their clinical encounter.
Systematic health risk assessment revealed that almost half the population were at increased disease risk based on guidelines. Risk identification resulted in shared discussions between participants and providers but variable clinical action uptake depending upon the recommendation.
Workforce Considerations When Building a Precision Medicine Program
CLB Zawatsky et al, J Per Med, November 20, 2022
(Posted: Nov 20, 2022 7AM)
This paper describes one healthcare system’s approach to strategically deploying genetic specialists and pharmacists to support the implementation of a precision medicine program. We report the necessary staffing including the genetic counselors, genetic counseling assistants, pharmacists, and geneticists. We examined the administrative and electronic medical records data to summarize genetic referrals over time as well as the uptake and results of an enterprise-wide genetic screening test. Between 2013 and 2020, the number of genetic specialists increased by 190%, from 10.1 full-time equivalents (FTEs) to 29.3 FTEs.
Integrating genome-wide polygenic risk scores and non-genetic risk to predict colorectal cancer diagnosis using UK Biobank data: population based cohort study
SEW Briggs et al, BMJ, November 2022
(Posted: Nov 14, 2022 7AM)
Integrating polygenic risk scores with QCancer-10 modestly improves risk prediction over use of QCancer-10 alone. Given that QCancer-10 data can be obtained relatively easily from health records, use of polygenic risk score in risk stratified population screening for colorectal cancer currently has no clear justification. The added benefit, cost effectiveness, and acceptability of polygenic risk scores should be carefully evaluated in a real life screening setting before implementation in the general population.
Circulating tumor DNA as a novel prognostic indicator
A Vivancos et al, Nature Medicine, November 10, 2022
(Posted: Nov 11, 2022 5PM)
Recent years have witnessed the development and clinical implementation of liquid biopsy as an alternative source of tumor-derived DNA when tumor tissue sampling is challenging, or biopsy not recommended. Management of non–small-cell lung cancer (NSCLC) has become the main clinical scenario for the application of liquid biopsy in advanced disease, given the large number of targetable driver alterations (EGFR, ALK, ROS1, BRAF, MET, NTRK and RET) and the often-limited quantity of tumor tissue.
The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health
NA Walton et al, J Per Med, November 8, 2022
(Posted: Nov 08, 2022 8AM)
We have developed an infrastructure utilizing informatics tools and clinical processes to facilitate the use of whole genome sequencing data for population health management across the healthcare system. Our resulting framework scaled well to multiple clinical domains in both pediatric and adult care, although there were domain specific challenges that arose. Our infrastructure was complementary to existing clinical processes and well-received by care providers and patients. Implementation of genomics at the scale of population health utilizes complicated technologies and processes that for many health systems are not supported by current information systems or in existing clinical workflows.
Genetic Counsellors play a key role in supporting ethically responsible expanded universal carrier screening
L Dive et al, EJHG, November 7, 2022
(Posted: Nov 07, 2022 8AM)
Genetic counsellors and other healthcare providers, along with consumer and community groups, have a central role in leading the discussion that is needed prior to implementing reproductive genetics carrier screening (RGCS). Drawing on relevant clinical perspectives can inform the development and implementation of ethically robust offerings of RGCS that go some way towards responding to the societal ethical concerns identified in a recent review.
Inconsistent clinical practices thwart wider use of personalized medicine
D Pritchard et al, STAT News, October 31, 2022
(Posted: Nov 01, 2022 2PM)
The promise of personalized medicine — safer and more effective treatments tailored to each individual’s body and needs — isn’t being fully met because of challenges associated with its implementation in clinical practice. Gaps in clinical practice that limited the possibility of personalized medicine included failures to order tests to identify genes that may be associated with targeted treatment options, failures to collect the tissue or blood samples needed for those tests, errors in collecting or processing tissue or blood sample, testing results that were inconclusive or provided false negatives, extended turnaround times for reporting results that prompted doctors to prescribe one-size-fits-all treatments for patients who did not have the time to wait any longer, and failures to prescribe the appropriate therapies to patients who tested positive for actionable biomarkers.
Impact of Clinical Practice Gaps on the Implementation of Personalized Medicine in Advanced Non-Small-Cell Lung Cancer.
Sadik Helen et al. JCO precision oncology 2022 10 e2200246
(Posted: Nov 01, 2022 2PM)
For every 1,000 patients in the study cohort, 497 (49.7%) are lost to precision oncology because of factors associated with getting biomarker test results. Among the 503 of 1,000 patients who did receive results from a biomarker test, 147 (29.2%) did not receive appropriate targeted treatments. Thus, approximately 64% of potentially eligible patients with aNSCLC are not benefiting from precision oncology therapies appropriate for their disease.
Accelerating genomic medicine in the NHS
NHS England, October 2022
(Posted: Oct 30, 2022 0PM)
As we bring the benefits of genomics to patients and our population, we need a comprehensive and ambitious national approach covering prevention, diagnosis and targeted treatments that enables patients, families and carers to participate in shared decision making. This strategy sets out four priority areas to this approach: 1. Embedding genomics across the NHS, through a world leading innovative service model from primary and community care through to specialist and tertiary care. 2. Delivering equitable genomic testing for improved outcomes in cancer, rare, inherited and common diseases and in enabling precision medicine and reducing adverse drug reactions. 3. Enabling genomics to be at the forefront of the data and digital revolution, ensuring genomic data can be interpreted and informed by other diagnostic and clinical data. 4. Evolving the service through cutting-edge science, research and innovation to ensure that patients can benefit from rapid implementation of advances.
Co-design, implementation, and evaluation of plain language genomic test reports
GR Brett et al, NPJ Genomic Medicine, October 22, 2022
(Posted: Oct 22, 2022 0PM)
Through co-design involving patient groups, plain language experts, educators, and genetic health professionals, plain language genomic test report templates were produced for common test outcomes in rare diseases. Eight plain language genomic test report templates were developed. These reports were piloted and evaluated as part of a national pediatric ultra-rapid genomic testing program. Family and genetic health professional experiences with report layout, content, and use were explored using surveys.
How does the genomic naive public perceive whole genomic testing for health purposes? A scoping review
IA Sherburn et al, EJHG, October 19, 2022
(Posted: Oct 19, 2022 7AM)
Sixteen full-text articles were included in the final analysis. Most of the studies used questionnaires to determine attitudes of the public toward clinical genomics (n?=?12). Public perceptions were found to underpin technology (Domain 2), value proposition (Domain 3), the adopter system (Domain 4) and the wider context (Domain 6) of the NASSS framework, highlighting its importance when considering implementation of an innovative technology such as genomic testing.
Intelligent risk prediction in public health using wearable device data
MM Raza et al, NPJ Digital Medicine, October 13, 2022
(Posted: Oct 13, 2022 6AM)
A recent study found that machine learning can predict the risk of COVID-19 infection, by combining biometric data from wearable devices like Fitbit, with electronic symptom surveys. In doing so, they aim to increase the efficiency of test allocation when tracking disease spread in resource-limited settings. But the implications of technology that applies data from wearables stretch far beyond infection monitoring into healthcare delivery and research. The adoption and implementation of this type of technology will depend on regulation, impact on patient outcomes, and cost savings.
Pandemic origins and a One Health approach to preparedness and prevention: Solutions based on SARS-CoV-2 and other RNA viruses
GD Keusch et al, PNAS, October 10, 2022
(Posted: Oct 10, 2022 5PM)
We identify three primary targets for pandemic prevention and preparedness: first, smart surveillance coupled with epidemiological risk assessment across wildlife–livestock–human (One Health) spillover interfaces; second, research to enhance pandemic preparedness and expedite development of vaccines and therapeutics; and third, strategies to reduce underlying drivers of spillover risk and spread and reduce the influence of misinformation. For all three, continued efforts to improve and integrate biosafety and biosecurity with the implementation of a One Health approach are essential.
Patient and provider perspectives on polygenic risk scores: implications for clinical reporting and utilization.
Lewis Anna C F et al. Genome medicine 2022 10 (1) 114
(Posted: Oct 09, 2022 11AM)
Many patients did not understand the numbers representing risk, with high numeracy patients being the exception. However, all the patients still understood a key takeaway that they should ask their PCP about actions to lower their disease risk. PCPs described a diverse range of heuristics they would use to interpret and act on PRS information. PCPs saw PRS information as a natural extension of their current practice. The most pressing gap for PRS implementation is evidence for clinical utility. Careful clinical report design can help ensure that benefits are realized and harms are minimized.
From All of Us Research to All of Us in the Real World
CDC September 29 webinar, 1-hour video
(Posted: Oct 06, 2022 3PM)
Through a Data Use Agreement with the All of Us Research Program, scientists at the Centers for Disease Control and Prevention can now register to access and analyze All of Us Research Program Data through a cloud platform. This webinar reviewed the All of Us Research Program study design and current status, discussed its potential for providing important population data to inform implementation of disease prevention and to reduce health disparities and provided a training session for scientists interested in accessing and analyzing All of Us Data.
Polygenic scores for cancer
The PHG Foundation, September 2022
(Posted: Oct 06, 2022 9AM)
The report provides an overview of what is known about polygenic scores - when multiple genetic variants associated with a disease are combined - and what they could mean for cancer prediction, prevention and management. This accessible short report for health policy makers and other stakeholders also sets out the potential areas where implementation into health services is being considered and outlines current gaps in the scientific evidence.
Health digital twins as tools for precision medicine: Considerations for computation, implementation, and regulation
KP Venkatesh et al, NPJ Digital Medicine, Sepetmber 22, 2022
(Posted: Sep 23, 2022 7AM)
Health digital twins are defined as virtual representations (“digital twin”) of patients (“physical twin”) that are generated from multimodal patient data, population data, and real-time updates on patient and environmental variables. With appropriate use, HDTs can model random perturbations on the digital twin to gain insight into the expected behavior of the physical twin—offering groundbreaking applications in precision medicine, clinical trials, and public health.
Implementing precision medicine in a regionally organized healthcare system in Sweden
T Fioretos et al, Nature Medicine, September 19, 2022
(Posted: Sep 20, 2022 6AM)
Although some governments have created national strategies for precision medicine and utilized centralized infrastructures, the process has proven more challenging for countries like Sweden with a regionally organized healthcare system. In Sweden, the key to a successful implementation of precision medicine has instead been a bottom-up approach in which academia and healthcare joined forces to build a nationally distributed infrastructure.
